Endocrine Abstracts

Introduction: Trisomy 21 is the most common chromosomal disorder. It is associated with an increased risk of endocrinopathy particularly thyroid gland disorders. This is frequently a compensated hypothyroidism. Hyperthyroidism is rare. We report the case of an adolescent with Down’s syndrome and celiac disease who presented with subclinical hyperthyroidism.

Case report: It was a 15-year-old female from a non-consanguineous marriage with a history of celiac disease on a gluten-free diet. The physical examination showed a stable weight of 48 kg, a height of 146 cm and a body mass index of 22.53 kg/m². She had a goiter visible in extension of the neck but no exophthalmos. She had no history of excessive sweating, diarrhea or tremors. Cardiovascular examination was unremarkable. Blood investigations noted a normochromic normocytic anemia of 11.3 g/dl. The thyroid assessment done as a part of an annual biological monitoring showed a TSH of 0.005 mUI/l and a free T4 of 17.21 pmol/ml (12-22). Anti-TSH receptor antibodies were positive. Cervical ultrasound showed a diffuse enlargement of the thyroid. The diagnosis of Grave’s disease was retained.

Conclusion: Down’s syndrome is a breeding ground for thyroid dysfunction. Celiac disease is common in people with down’s syndrome and it is associated to various endocrine autoimmunities such as thyropathies. Hyperthyroidism is extremely rare. The diagnosis is often made through a systematic assessment, hence the interest of a biological control aimed at detecting dysthyroidism early to avoid complications that are potentially serious. The particularity of our observation was the association of celiac disease and grave’s disease in an adolescent discovered by an annual thyroid check-up.